Incidental Mutation 'R7316:Tbc1d1'
ID 567954
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 045413-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7316 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 64492620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043893] [ENSMUST00000101195] [ENSMUST00000119756] [ENSMUST00000121370]
AlphaFold Q60949
Predicted Effect probably null
Transcript: ENSMUST00000043893
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
Blast:TBC 541 635 2e-27 BLAST
low complexity region 640 663 N/A INTRINSIC
Pfam:DUF3350 777 832 2.5e-25 PFAM
TBC 884 1104 3.84e-89 SMART
Blast:TBC 1129 1186 5e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000101195
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
Pfam:DUF3350 684 739 4e-29 PFAM
TBC 791 1011 3.84e-89 SMART
Blast:TBC 1036 1093 4e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000119756
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174

DomainStartEndE-ValueType
PTB 39 249 5.93e-34 SMART
low complexity region 390 411 N/A INTRINSIC
low complexity region 427 438 N/A INTRINSIC
Pfam:DUF3350 555 610 2.9e-29 PFAM
TBC 662 882 3.84e-89 SMART
Blast:TBC 907 964 4e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000121370
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
Pfam:DUF3350 684 739 4e-29 PFAM
TBC 791 1011 3.84e-89 SMART
Blast:TBC 1036 1093 4e-12 BLAST
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,969,020 (GRCm39) M214I probably benign Het
Aadat G T 8: 60,979,668 (GRCm39) G177C probably damaging Het
Adam4 T C 12: 81,466,498 (GRCm39) I708V probably benign Het
Aip T C 19: 4,164,793 (GRCm39) N264S probably benign Het
Alox8 A T 11: 69,077,064 (GRCm39) D505E probably benign Het
Ap3d1 A T 10: 80,553,693 (GRCm39) I518N probably damaging Het
Arf3 G A 15: 98,638,874 (GRCm39) Q128* probably null Het
Asph A G 4: 9,537,746 (GRCm39) V344A probably benign Het
Birc6 A T 17: 74,911,489 (GRCm39) R1500S probably damaging Het
Bptf G A 11: 106,963,935 (GRCm39) T1753I probably damaging Het
Bptf A T 11: 107,001,740 (GRCm39) C457* probably null Het
Brpf3 T A 17: 29,033,660 (GRCm39) I568N probably damaging Het
Btnl4 G C 17: 34,688,031 (GRCm39) N582K probably benign Het
Camsap3 C A 8: 3,654,648 (GRCm39) P773T possibly damaging Het
Capsl A T 15: 9,461,888 (GRCm39) I95L probably benign Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cdan1 A T 2: 120,558,813 (GRCm39) probably null Het
Chd3 A T 11: 69,236,394 (GRCm39) L1939Q probably damaging Het
Cngb3 A T 4: 19,425,599 (GRCm39) Y469F probably benign Het
Cp T C 3: 20,026,916 (GRCm39) L448P probably damaging Het
Csnk1g2 T C 10: 80,475,687 (GRCm39) V418A possibly damaging Het
Dag1 A T 9: 108,086,701 (GRCm39) S147T probably benign Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dpysl2 A T 14: 67,100,044 (GRCm39) M64K possibly damaging Het
Dus3l A G 17: 57,072,551 (GRCm39) H38R possibly damaging Het
Eme2 G A 17: 25,113,840 (GRCm39) R62W probably damaging Het
Enox1 A T 14: 77,958,298 (GRCm39) M616L probably benign Het
Epb41l4b T A 4: 57,019,867 (GRCm39) T708S probably benign Het
Fat2 A T 11: 55,176,893 (GRCm39) I1534N probably damaging Het
Fer1l5 A G 1: 36,457,197 (GRCm39) T1649A probably benign Het
Fmo9 A G 1: 166,491,215 (GRCm39) V421A probably benign Het
Fsip2 A C 2: 82,820,035 (GRCm39) Y5256S possibly damaging Het
Gapvd1 G A 2: 34,594,681 (GRCm39) L804F probably damaging Het
Garin1a A G 6: 29,286,101 (GRCm39) M187V probably benign Het
Gen1 A G 12: 11,291,470 (GRCm39) V838A probably benign Het
Gnptab A T 10: 88,236,572 (GRCm39) N59I probably damaging Het
Grm5 A G 7: 87,624,473 (GRCm39) T347A probably benign Het
Gsdmc3 T C 15: 63,730,251 (GRCm39) N438D possibly damaging Het
Hmcn1 A G 1: 150,608,697 (GRCm39) L1495S probably damaging Het
Ift70a1 A T 2: 75,811,201 (GRCm39) L294Q probably damaging Het
Islr2 T C 9: 58,105,250 (GRCm39) E714G probably damaging Het
Larp4 A T 15: 99,898,898 (GRCm39) M430L probably benign Het
Lpcat2b A G 5: 107,580,979 (GRCm39) I103V not run Het
Lrguk C T 6: 34,080,191 (GRCm39) S1142F unknown Het
Lrit2 G T 14: 36,790,815 (GRCm39) V165F probably damaging Het
Mast3 T A 8: 71,232,432 (GRCm39) I1182F probably damaging Het
Mcm6 C T 1: 128,287,245 (GRCm39) D20N probably damaging Het
Mief1 A G 15: 80,133,598 (GRCm39) I218M probably damaging Het
Mmp2 A G 8: 93,567,038 (GRCm39) T453A probably benign Het
Ms4a18 T A 19: 10,979,360 (GRCm39) S219C probably damaging Het
Myo5c A T 9: 75,176,920 (GRCm39) T622S probably benign Het
Neb A T 2: 52,161,450 (GRCm39) M2114K possibly damaging Het
Nemp1 T A 10: 127,525,212 (GRCm39) L122* probably null Het
Nkx2-1 T C 12: 56,581,583 (GRCm39) N88S probably benign Het
Nr2c2 T A 6: 92,131,444 (GRCm39) C202S probably damaging Het
Ntsr1 A C 2: 180,142,545 (GRCm39) D112A probably damaging Het
Or14j3 A G 17: 37,901,026 (GRCm39) S73P probably damaging Het
Or56a41 A T 7: 104,740,107 (GRCm39) H246Q probably damaging Het
Or6n2 A T 1: 173,897,727 (GRCm39) I288F probably benign Het
Osbp2 C A 11: 3,676,431 (GRCm39) R73L probably damaging Het
Pbp2 T A 6: 135,286,830 (GRCm39) E172D probably damaging Het
Pcdhgc3 T C 18: 37,941,501 (GRCm39) I634T probably benign Het
Pcnx1 T C 12: 82,042,323 (GRCm39) S38P probably benign Het
Phyh A T 2: 4,940,855 (GRCm39) K252* probably null Het
Plcb3 C T 19: 6,943,753 (GRCm39) probably null Het
Ppargc1b T C 18: 61,440,909 (GRCm39) S670G probably damaging Het
Prorp A G 12: 55,351,429 (GRCm39) D246G probably damaging Het
Ptprc T C 1: 137,992,509 (GRCm39) Y1067C probably damaging Het
Pwwp2b A C 7: 138,836,140 (GRCm39) E527A probably benign Het
Pzp T C 6: 128,490,736 (GRCm39) D409G probably damaging Het
Rbfox2 A T 15: 77,016,929 (GRCm39) N148K possibly damaging Het
Resf1 T C 6: 149,228,136 (GRCm39) L394P probably damaging Het
Rps24 T C 14: 24,540,757 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,862,584 (GRCm39) K202E probably damaging Het
Spata7 C T 12: 98,624,871 (GRCm39) R258W probably damaging Het
Spen A T 4: 141,204,365 (GRCm39) S1421T unknown Het
Svep1 T A 4: 58,068,763 (GRCm39) I3008F possibly damaging Het
Thsd4 T A 9: 59,894,642 (GRCm39) H772L probably benign Het
Tle1 T C 4: 72,036,529 (GRCm39) I769V probably benign Het
Tm4sf19 T A 16: 32,226,466 (GRCm39) S127T possibly damaging Het
Tmprss9 C A 10: 80,730,813 (GRCm39) R780S probably benign Het
Tpp2 T C 1: 44,009,591 (GRCm39) V475A probably benign Het
Ttn A G 2: 76,692,509 (GRCm39) V471A Het
Ttn A T 2: 76,597,257 (GRCm39) N19885K probably damaging Het
Tub A T 7: 108,629,378 (GRCm39) T478S possibly damaging Het
Ube2q2l T C 6: 136,378,276 (GRCm39) K185E possibly damaging Het
Vmn2r88 A T 14: 51,651,712 (GRCm39) Y342F Het
Wdr18 C A 10: 79,801,059 (GRCm39) D157E probably benign Het
Xrra1 A T 7: 99,525,423 (GRCm39) probably null Het
Zc3h4 G C 7: 16,169,260 (GRCm39) G1198A unknown Het
Zfp568 A T 7: 29,721,681 (GRCm39) I209F possibly damaging Het
Zfp787 C A 7: 6,158,523 (GRCm39) probably benign Het
Zfp974 A T 7: 27,609,863 (GRCm39) Y621N possibly damaging Het
Zyg11b A G 4: 108,107,699 (GRCm39) I493T possibly damaging Het
Other mutations in Tbc1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Tbc1d1 APN 5 64,414,335 (GRCm39) missense probably damaging 1.00
IGL02341:Tbc1d1 APN 5 64,432,750 (GRCm39) missense probably damaging 1.00
IGL02353:Tbc1d1 APN 5 64,414,179 (GRCm39) missense probably damaging 1.00
IGL02360:Tbc1d1 APN 5 64,414,179 (GRCm39) missense probably damaging 1.00
IGL02963:Tbc1d1 APN 5 64,421,709 (GRCm39) missense probably damaging 1.00
IGL03003:Tbc1d1 APN 5 64,473,781 (GRCm39) missense probably damaging 1.00
Betrayal UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
Perfidy UTSW 5 64,492,620 (GRCm39) critical splice acceptor site probably null
R0035:Tbc1d1 UTSW 5 64,414,080 (GRCm39) missense probably damaging 1.00
R0084:Tbc1d1 UTSW 5 64,481,797 (GRCm39) missense probably damaging 0.96
R0321:Tbc1d1 UTSW 5 64,496,937 (GRCm39) missense probably damaging 1.00
R0559:Tbc1d1 UTSW 5 64,331,136 (GRCm39) missense probably damaging 1.00
R1296:Tbc1d1 UTSW 5 64,421,775 (GRCm39) missense probably damaging 1.00
R1922:Tbc1d1 UTSW 5 64,468,564 (GRCm39) missense probably damaging 1.00
R1928:Tbc1d1 UTSW 5 64,502,643 (GRCm39) missense probably damaging 1.00
R2095:Tbc1d1 UTSW 5 64,473,844 (GRCm39) missense probably benign 0.01
R2107:Tbc1d1 UTSW 5 64,442,048 (GRCm39) missense probably benign 0.19
R2253:Tbc1d1 UTSW 5 64,442,143 (GRCm39) missense probably benign 0.00
R3545:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R3546:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R3547:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R4039:Tbc1d1 UTSW 5 64,473,771 (GRCm39) missense probably damaging 0.99
R4289:Tbc1d1 UTSW 5 64,417,771 (GRCm39) missense probably damaging 1.00
R4380:Tbc1d1 UTSW 5 64,490,891 (GRCm39) missense probably benign 0.29
R4405:Tbc1d1 UTSW 5 64,331,013 (GRCm39) missense possibly damaging 0.93
R4564:Tbc1d1 UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
R4722:Tbc1d1 UTSW 5 64,420,900 (GRCm39) missense probably damaging 1.00
R4779:Tbc1d1 UTSW 5 64,435,389 (GRCm39) critical splice donor site probably null
R5256:Tbc1d1 UTSW 5 64,439,352 (GRCm39) missense probably damaging 1.00
R5268:Tbc1d1 UTSW 5 64,481,910 (GRCm39) missense probably damaging 0.99
R5510:Tbc1d1 UTSW 5 64,490,738 (GRCm39) missense probably damaging 1.00
R5547:Tbc1d1 UTSW 5 64,481,887 (GRCm39) missense possibly damaging 0.73
R5620:Tbc1d1 UTSW 5 64,331,055 (GRCm39) missense probably benign 0.44
R5680:Tbc1d1 UTSW 5 64,481,887 (GRCm39) missense possibly damaging 0.73
R5874:Tbc1d1 UTSW 5 64,507,273 (GRCm39) makesense probably null
R6002:Tbc1d1 UTSW 5 64,490,776 (GRCm39) missense probably damaging 1.00
R6058:Tbc1d1 UTSW 5 64,435,352 (GRCm39) missense probably damaging 1.00
R6092:Tbc1d1 UTSW 5 64,507,242 (GRCm39) missense probably benign 0.00
R6118:Tbc1d1 UTSW 5 64,441,380 (GRCm39) missense probably damaging 0.98
R6183:Tbc1d1 UTSW 5 64,432,768 (GRCm39) missense probably damaging 1.00
R6447:Tbc1d1 UTSW 5 64,490,836 (GRCm39) missense probably damaging 1.00
R6824:Tbc1d1 UTSW 5 64,414,245 (GRCm39) missense probably benign 0.02
R6913:Tbc1d1 UTSW 5 64,468,452 (GRCm39) missense probably benign 0.26
R7039:Tbc1d1 UTSW 5 64,442,100 (GRCm39) missense probably benign 0.08
R7150:Tbc1d1 UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
R7154:Tbc1d1 UTSW 5 64,331,156 (GRCm39) missense possibly damaging 0.56
R7621:Tbc1d1 UTSW 5 64,421,673 (GRCm39) missense probably damaging 1.00
R7653:Tbc1d1 UTSW 5 64,414,133 (GRCm39) missense probably benign 0.21
R7684:Tbc1d1 UTSW 5 64,473,829 (GRCm39) missense probably benign 0.13
R7816:Tbc1d1 UTSW 5 64,507,095 (GRCm39) missense probably damaging 0.98
R8832:Tbc1d1 UTSW 5 64,442,020 (GRCm39) splice site probably benign
R9027:Tbc1d1 UTSW 5 64,414,349 (GRCm39) missense probably benign 0.01
R9287:Tbc1d1 UTSW 5 64,435,364 (GRCm39) missense probably damaging 1.00
R9546:Tbc1d1 UTSW 5 64,330,950 (GRCm39) missense possibly damaging 0.88
R9547:Tbc1d1 UTSW 5 64,330,950 (GRCm39) missense possibly damaging 0.88
R9577:Tbc1d1 UTSW 5 64,473,699 (GRCm39) missense possibly damaging 0.83
R9599:Tbc1d1 UTSW 5 64,502,701 (GRCm39) missense probably benign 0.28
R9605:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
X0064:Tbc1d1 UTSW 5 64,432,795 (GRCm39) missense probably benign 0.04
Z1088:Tbc1d1 UTSW 5 64,432,736 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGGCTTCTACTGATCAATGGG -3'
(R):5'- GCAATGACGCTGCTTTGTGAC -3'

Sequencing Primer
(F):5'- ACTGATCAATGGGAGCCTGTTCC -3'
(R):5'- CTTTGTGACAGGGGAACGC -3'
Posted On 2019-06-26